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CSF1R mosaicism in a family with hereditary diffuse leukoencephalopathy with spheroids.
Eichler FS, Li J, Guo Y, Caruso PA, Bjonnes AC, Pan J, Booker JK, Lane JM, Tare A, Vlasac I, Hakonarson H, Gusella JF, Zhang J, Keating BJ, Saxena R. Eichler FS, et al. Among authors: booker jk. Brain. 2016 Jun;139(Pt 6):1666-72. doi: 10.1093/brain/aww066. Epub 2016 May 5. Brain. 2016. PMID: 27190017 Free PMC article.
Mosaicism for an FMR1 gene deletion in a fragile X female.
Fan H, Booker JK, McCandless SE, Shashi V, Fleming A, Farber RA. Fan H, et al. Among authors: booker jk. Am J Med Genet A. 2005 Jul 15;136(2):214-7. doi: 10.1002/ajmg.a.30807. Am J Med Genet A. 2005. PMID: 15940701
Detection of common disease-causing mutations in mitochondrial DNA (mitochondrial encephalomyopathy, lactic acidosis with stroke-like episodes MTTL1 3243 A>G and myoclonic epilepsy associated with ragged-red fibers MTTK 8344A>G) by real-time polymerase chain reaction.
Fan H, Civalier C, Booker JK, Gulley ML, Prior TW, Farber RA. Fan H, et al. Among authors: booker jk. J Mol Diagn. 2006 May;8(2):277-81. doi: 10.2353/jmoldx.2006.050066. J Mol Diagn. 2006. PMID: 16645216 Free PMC article.
Common-variant associations with fragile X syndrome.
Crowley JJ, Szatkiewicz J, Kähler AK, Giusti-Rodriguez P, Ancalade N, Booker JK, Carr JL, Crawford GE, Losh M, Stockmeier CA, Taylor AK, Piven J, Sullivan PF. Crowley JJ, et al. Among authors: booker jk. Mol Psychiatry. 2019 Mar;24(3):338-344. doi: 10.1038/s41380-018-0290-3. Epub 2018 Dec 7. Mol Psychiatry. 2019. PMID: 30531935 Free PMC article.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Berg JS, Foreman AK, O'Daniel JM, Booker JK, Boshe L, Carey T, Crooks KR, Jensen BC, Juengst ET, Lee K, Nelson DK, Powell BC, Powell CM, Roche MI, Skrzynia C, Strande NT, Weck KE, Wilhelmsen KC, Evans JP. Berg JS, et al. Among authors: booker jk. Genet Med. 2016 May;18(5):467-75. doi: 10.1038/gim.2015.104. Epub 2015 Aug 13. Genet Med. 2016. PMID: 26270767 Free PMC article.
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Roman TS, Crowley SB, Roche MI, Foreman AKM, O'Daniel JM, Seifert BA, Lee K, Brandt A, Gustafson C, DeCristo DM, Strande NT, Ramkissoon L, Milko LV, Owen P, Roy S, Xiong M, Paquin RS, Butterfield RM, Lewis MA, Souris KJ, Bailey DB Jr, Rini C, Booker JK, Powell BC, Weck KE, Powell CM, Berg JS. Roman TS, et al. Among authors: booker jk. Am J Hum Genet. 2020 Oct 1;107(4):596-611. doi: 10.1016/j.ajhg.2020.08.001. Epub 2020 Aug 26. Am J Hum Genet. 2020. PMID: 32853555 Free PMC article.
A multicenter study of the frequency and distribution of GJB2 and GJB6 mutations in a large North American cohort.
Putcha GV, Bejjani BA, Bleoo S, Booker JK, Carey JC, Carson N, Das S, Dempsey MA, Gastier-Foster JM, Greinwald JH Jr, Hoffmann ML, Jeng LJ, Kenna MA, Khababa I, Lilley M, Mao R, Muralidharan K, Otani IM, Rehm HL, Schaefer F, Seltzer WK, Spector EB, Springer MA, Weck KE, Wenstrup RJ, Withrow S, Wu BL, Zariwala MA, Schrijver I. Putcha GV, et al. Among authors: booker jk. Genet Med. 2007 Jul;9(7):413-26. Genet Med. 2007. PMID: 17666888 Free article.
22 results